Mutilating keratoderma

Known as: DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES, Keratoderma hereditarium mutilans, Vohwinkel syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2016
02419742016

Papers overview

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2010
2010
About one to three of a 1,000 neonates are afflicted at birth with a serious hearing impairment, with about half of the cases due… (More)
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2006
2006
The problem of image segmentation using intensity clustering approaches has been addressed in the literature. Grouping pixels of… (More)
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2006
2006
Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap… (More)
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2005
2005
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among… (More)
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2004
2004
Connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and… (More)
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2004
2004
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar… (More)
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2003
2003
To investigate the role of connexins in dominantly inherited skin disease, transgenic mice were produced which expressed mutant… (More)
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Highly Cited
2000
Highly Cited
2000
We propose a new class of center-based iterative clustering algorithms, K-Harmonic Means (KHMp), which is essentially insensitive… (More)
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2000
2000
Mutations in the cornified cell envelope protein loricrin have been reported recently in some patients with Vohwinkel syndrome… (More)
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1994
1994
We describe a female patient with Vohwinkel syndrome (mutilating palmoplantar keratoderma), who in addition showed cleft lip and… (More)
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